rs121912907, COL1A2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.925 0.120 7 94415263 missense variant G/T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.925 0.120 7 94415263 missense variant G/T snv 0.700 0